ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139749250
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340262
ClinVar RCV Id:
RCV000296080
RCV001263255
RCV002523187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Pro1398Ser
CA10653680
NM_130444.2:c.4192C>T